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Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

Amri, Raja ; Charfi, Slim ; Jemaà, Mohamed LU ; Miled, Nabil ; Slimi, Fathia ; Rebai, Mohamed Ali ; Abdelwahed, Mayssa ; Keskes, Hassib and Aifa, Sami (2020) In BioMed Research International 2020.
Abstract

Giant Cell Tumour of Bone (GCTB) is a rare bone tumour. Locally aggressive and recurrent, it might evolve into pulmonary metastases. Our present work is aimed at investigating the involvement of the epidermal growth factor receptor (ErbB) family and its downstream effectors in the development and recurrence of GCTB. For this purpose, we used a cohort of 32 GCTB patients and we evaluated the clinicohistological features and the expression of RANKL, EGFR, and HER2. The mutation status of KRAS, PI3KCA, and PTEN gene as potential oncogene involved in GCTB was also evaluated. We found a significant correlation between advanced histological stages, overexpression of EGFR/HER2, and tumour recurrence. Moreover, two mutations were found in the... (More)

Giant Cell Tumour of Bone (GCTB) is a rare bone tumour. Locally aggressive and recurrent, it might evolve into pulmonary metastases. Our present work is aimed at investigating the involvement of the epidermal growth factor receptor (ErbB) family and its downstream effectors in the development and recurrence of GCTB. For this purpose, we used a cohort of 32 GCTB patients and we evaluated the clinicohistological features and the expression of RANKL, EGFR, and HER2. The mutation status of KRAS, PI3KCA, and PTEN gene as potential oncogene involved in GCTB was also evaluated. We found a significant correlation between advanced histological stages, overexpression of EGFR/HER2, and tumour recurrence. Moreover, two mutations were found in the PIK3CA gene: a missense mutation, 1634A>C, detected for the first time in GCTB patients, without influencing the stability of the protein, and a frameshift mutation, c.1658_1659delGTinsC, causing the loss of the protein kinase domain. Altogether, these results suggest that overexpression of HER2/EGFR, Campanacci, and histological stages could be used as a novel prognostic marker for GCTB recurrence.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
BioMed Research International
volume
2020
article number
2931784
publisher
Hindawi Limited
external identifiers
  • scopus:85090195645
ISSN
2314-6133
DOI
10.1155/2020/2931784
language
English
LU publication?
yes
id
62c3723c-72ee-470d-bf19-9117f100c6f4
date added to LUP
2020-09-25 08:32:35
date last changed
2022-04-19 01:00:30
@article{62c3723c-72ee-470d-bf19-9117f100c6f4,
  abstract     = {{<p>Giant Cell Tumour of Bone (GCTB) is a rare bone tumour. Locally aggressive and recurrent, it might evolve into pulmonary metastases. Our present work is aimed at investigating the involvement of the epidermal growth factor receptor (ErbB) family and its downstream effectors in the development and recurrence of GCTB. For this purpose, we used a cohort of 32 GCTB patients and we evaluated the clinicohistological features and the expression of RANKL, EGFR, and HER2. The mutation status of KRAS, PI3KCA, and PTEN gene as potential oncogene involved in GCTB was also evaluated. We found a significant correlation between advanced histological stages, overexpression of EGFR/HER2, and tumour recurrence. Moreover, two mutations were found in the PIK3CA gene: a missense mutation, 1634A&gt;C, detected for the first time in GCTB patients, without influencing the stability of the protein, and a frameshift mutation, c.1658_1659delGTinsC, causing the loss of the protein kinase domain. Altogether, these results suggest that overexpression of HER2/EGFR, Campanacci, and histological stages could be used as a novel prognostic marker for GCTB recurrence.</p>}},
  author       = {{Amri, Raja and Charfi, Slim and Jemaà, Mohamed and Miled, Nabil and Slimi, Fathia and Rebai, Mohamed Ali and Abdelwahed, Mayssa and Keskes, Hassib and Aifa, Sami}},
  issn         = {{2314-6133}},
  language     = {{eng}},
  month        = {{08}},
  publisher    = {{Hindawi Limited}},
  series       = {{BioMed Research International}},
  title        = {{Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development}},
  url          = {{http://dx.doi.org/10.1155/2020/2931784}},
  doi          = {{10.1155/2020/2931784}},
  volume       = {{2020}},
  year         = {{2020}},
}